Varaico: Literature-Extracted Genetic Variants

GBF1

90 papers

RefSeq Summary

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchan...

Pfam Domains

Sec7-like_HUSaa 400–551UCSCMon2/Sec7/BIG1-like, HUS domain

Sec7aa 601–786UCSCSec7 domain

TPR_28aa 1474–1614UCSCGBF1-like, tetratrico peptide repeat region

TPR_28aa 1526–1696UCSCGBF1-like, tetratrico peptide repeat region

Gene Aliases

HGNC Name

golgi brefeldin A resistant guanine nucleotide exchange factor 1

HGNC Alias Symbols

KIAA0248; ARF1GEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377137.1

p.M833L

c.2497A>C

Surrounding Variants

1 paper

NM_001377137.1

p.M833L

c.2497A>T

1 paper

NM_001377137.1

p.S821S

c.2463C>T

1 paper

NM_004193.3

p.K844E

c.2530A>G

1 paper

NM_001377137.1

p.G865C

c.2593G>T

1 paper

NM_004193.3

p.Y876F

c.2627A>T

1 paper

NM_001377137.1

p.W810*

c.2430G>A

1 paper

NM_001377137.1

p.M887insFs

c.2660_2661insC

1 paper

NM_004193.3

p.Y898F

c.2693A>T

1 paper

NM_001377137.1

p.A955A

c.2865C>T

1 paper

NM_001377137.1

p.S757fs

c.2269_2270fs

1 paper

NM_001377137.1

p.S757_S770delFs

c.2270_2309del40

1 paper

NM_001377137.1

p.V756_V769delFs

c.2267_2306del40